Autori: Johnson Katherine
| Naslov | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population (Letter) |
| Autori | Johnson Katherine ... Rakocevic-Stojanovic Vidosava M Peric Stojan Z ... (broj koautora 23) |
| Info | JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, (2019), vol. 90 br. 4, str. 490-+ |
| Projekat | Sanofi Genzyme; Ultragenyx; LGMD2I Research Fund; Samantha J Brazzo Foundation; LGMD2D Foundation; Kurt+Peter Foundation; Muscular Dystrophy UK; Coalition to Cure Calpain 3; Association Belge contre les Maladies Neuromusculaire (ABMM) - Aide a la Recherch |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness (Article) |
| Autori | Johnson Katherine ... Rakocevic-Stojanovic Vidosava M Peric Stojan Z ... (broj koautora 17) |
| Info | ORPHANET JOURNAL OF RARE DISEASES, (2017), vol. 12 br. , str. - |
| Projekat | Sanofi Genzyme; Ultragenyx; Kurt + Peter Foundation; LGMD2I Research Fund; Samantha J Brazzo Foundation; LGMD2D Foundation; Muscular Dystrophy UK; Coalition to Cure Calpain 3; National Human Genome Research Institute; National Eye Institute; National Hear |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness (Meeting Abstract) |
| Autori | Johnson Katherine ... Rakocevic-Stojanovic Vidosava M Peric Stojan Z ... (broj koautora 21) |
| Info | NEUROMUSCULAR DISORDERS, (2017), vol. 27 br. , Suppl. 2, str. S142-S143 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | Two novel mutations in the FHL1 gene extending the phenotypic spectrum (Meeting Abstract) |
| Autori | Strehle E Johnson Katherine Rakocevic-Stojanovic Vidosava M Peric Stojan Z Farrugia M Longman C Straub V |
| Info | NEUROMUSCULAR DISORDERS, (2017), vol. 27 br. , Suppl. 2, str. S138-S139 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort (Meeting Abstract) |
| Autori | Tonf A Nikodinovic-Glumac Jelena Peric Stojan Z Cassop-Thompson M Bertoli M Johnson Katherine Phillips L MacArthur D Rakocevic-Stojanovic Vidosava M Straub V |
| Info | NEUROMUSCULAR DISORDERS, (2016), vol. 26 br. , Suppl. 2, str. S113-S114 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations (Meeting Abstract) |
| Autori | Johnson Katherine Bertoli M Phillips L Toepf A Claeys K Rakocevic-Stojanovic Vidosava M Peric Stojan Z Vissine J Hahn Andreas Maddison P Akay E Bastian A Lusakowska A Lek M Xu L MacArthur D Straub V |
| Info | NEUROMUSCULAR DISORDERS, (2016), vol. 26 br. , Suppl. 2, str. S108-S109 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
